Incidental Mutation 'R4204:Pex14'
ID 318824
Institutional Source Beutler Lab
Gene Symbol Pex14
Ensembl Gene ENSMUSG00000028975
Gene Name peroxisomal biogenesis factor 14
Synonyms Pex14p
MMRRC Submission 041033-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4204 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 149044992-149184300 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 149047984 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 198 (T198A)
Ref Sequence ENSEMBL: ENSMUSP00000099506 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103217]
AlphaFold Q9R0A0
Predicted Effect probably benign
Transcript: ENSMUST00000103217
AA Change: T198A

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000099506
Gene: ENSMUSG00000028975
AA Change: T198A

DomainStartEndE-ValueType
Pfam:Pex14_N 25 135 9.8e-25 PFAM
coiled coil region 163 198 N/A INTRINSIC
low complexity region 247 262 N/A INTRINSIC
low complexity region 265 275 N/A INTRINSIC
low complexity region 316 341 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128067
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145143
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146124
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153443
Meta Mutation Damage Score 0.0793 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.5%
Validation Efficiency 98% (46/47)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an essential component of the peroxisomal import machinery. The protein is integrated into peroxisome membranes with its C-terminus exposed to the cytosol, and interacts with the cytosolic receptor for proteins containing a PTS1 peroxisomal targeting signal. The protein also functions as a transcriptional corepressor and interacts with a histone deacetylase. A mutation in this gene results in one form of Zellweger syndrome. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous disruption of this locus results in embryonic lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T C 4: 53,090,369 (GRCm39) K360R probably benign Het
Ano7 A G 1: 93,308,200 (GRCm39) D77G probably benign Het
B130006D01Rik A G 11: 95,617,250 (GRCm39) probably benign Het
BC028528 A T 3: 95,797,057 (GRCm39) Y37* probably null Het
Ccdc171 A T 4: 83,599,392 (GRCm39) M736L probably benign Het
Ccdc88a A G 11: 29,413,399 (GRCm39) K646E probably damaging Het
Fam83b T C 9: 76,410,335 (GRCm39) T192A probably benign Het
Hgs C A 11: 120,368,013 (GRCm39) P241T probably damaging Het
Itga4 T C 2: 79,109,505 (GRCm39) Y235H probably damaging Het
Kank2 A G 9: 21,706,923 (GRCm39) Y32H probably damaging Het
Kprp A C 3: 92,732,046 (GRCm39) S335A probably damaging Het
Lgals9 C T 11: 78,860,642 (GRCm39) probably benign Het
Mfrp G A 9: 44,016,525 (GRCm39) G407S possibly damaging Het
Mfsd9 C T 1: 40,820,670 (GRCm39) G160R probably damaging Het
Mrtfb A T 16: 13,221,119 (GRCm39) Q776L possibly damaging Het
Mtcl1 T C 17: 66,745,256 (GRCm39) Y35C probably damaging Het
Nhej1 A T 1: 75,085,782 (GRCm39) I6N probably damaging Het
Npy5r G T 8: 67,134,693 (GRCm39) Y33* probably null Het
Or4c120 A G 2: 89,001,124 (GRCm39) V144A probably benign Het
Pcdha8 G C 18: 37,127,737 (GRCm39) V740L probably damaging Het
Pde8b C A 13: 95,359,053 (GRCm39) C90F probably benign Het
Ppp2r2b T A 18: 42,871,115 (GRCm39) H62L probably benign Het
Prodh A G 16: 17,890,182 (GRCm39) V553A probably damaging Het
Rasgef1c G A 11: 49,849,535 (GRCm39) V137M probably benign Het
Resf1 C T 6: 149,231,042 (GRCm39) R1363* probably null Het
Rgl2 G T 17: 34,155,906 (GRCm39) V694L probably benign Het
Rnf133 T C 6: 23,649,048 (GRCm39) N294D probably benign Het
Rpe65 G A 3: 159,310,047 (GRCm39) A107T probably damaging Het
Sacs A G 14: 61,410,892 (GRCm39) R56G possibly damaging Het
Serp2 A G 14: 76,793,902 (GRCm39) I18T probably damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Sis T C 3: 72,868,415 (GRCm39) I92V probably benign Het
Tcaim A G 9: 122,662,683 (GRCm39) K417R probably benign Het
Tex11 C A X: 99,977,021 (GRCm39) A487S possibly damaging Het
Tmem132c A G 5: 127,640,829 (GRCm39) D1000G possibly damaging Het
Trpm3 T A 19: 22,964,928 (GRCm39) D1474E probably benign Het
Ubxn2a T C 12: 4,944,593 (GRCm39) E43G probably damaging Het
Utp14b G A 1: 78,642,539 (GRCm39) E146K probably benign Het
Zfp800 C T 6: 28,243,180 (GRCm39) S595N probably benign Het
Other mutations in Pex14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02377:Pex14 APN 4 149,050,743 (GRCm39) missense probably benign 0.24
R0563:Pex14 UTSW 4 149,046,003 (GRCm39) missense possibly damaging 0.75
R1435:Pex14 UTSW 4 149,047,984 (GRCm39) missense probably benign 0.30
R1508:Pex14 UTSW 4 149,052,029 (GRCm39) missense probably damaging 1.00
R2844:Pex14 UTSW 4 149,047,968 (GRCm39) missense probably benign 0.02
R4433:Pex14 UTSW 4 149,045,967 (GRCm39) missense possibly damaging 0.93
R4563:Pex14 UTSW 4 149,126,225 (GRCm39) missense probably damaging 1.00
R4584:Pex14 UTSW 4 149,055,053 (GRCm39) missense probably damaging 0.99
R4587:Pex14 UTSW 4 149,048,021 (GRCm39) intron probably benign
R4667:Pex14 UTSW 4 149,068,542 (GRCm39) missense probably benign 0.00
R5646:Pex14 UTSW 4 149,045,910 (GRCm39) missense probably benign 0.00
R6175:Pex14 UTSW 4 149,046,156 (GRCm39) missense probably benign 0.19
X0025:Pex14 UTSW 4 149,115,740 (GRCm39) splice site probably benign
Predicted Primers PCR Primer
(F):5'- CATCTTCCAGCTCAGTGAGG -3'
(R):5'- TCTTAGCACCACCAGCAGTC -3'

Sequencing Primer
(F):5'- AGCTCAGTGAGGGGTCC -3'
(R):5'- ACCACCAGCAGTCAGAGGTTG -3'
Posted On 2015-06-10